Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Human Molecular Genetics

• Publication date

  2015-03-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/hmg/ddv103PMID 25788518PMCID PMC4553714
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Neurocognitive profiles of learning disabled children with neurofibromatosis type 1

  2014cited by this paper
• p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

  2014cited by this paper
• Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation.

  2014cited by this paper
• Attention Skills in Children With Neurofibromatosis Type 1

  2013cited by this paper
• Dopamine deficiency underlies learning deficits in neurofibromatosis‐1 mice

  2013influential reference
• Cognitive features that distinguish preschool-age children with neurofibromatosis type 1 from their peers: a matched case-control study.

  2013cited by this paper
• Skewed Allele-Specific Expression of the NF1 Gene in Normal Subjects

  2012cited by this paper
• Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

  2012cited by this paper
• Low serum truncated-BDNF isoform correlates with higher cognitive impairment in schizophrenia.

  2011cited by this paper
• Modeling familial Alzheimer's disease with induced pluripotent stem cells.

  2011cited by this paper
• A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations

  2011cited by this paper
• Sex-specific serum biomarker patterns in adults with Asperger's syndrome

  2011cited by this paper
• The pathoetiology of neurofibromatosis 1.

  2011cited by this paper
• Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

  2011cited by this paper
• Reviewer Acknowledgment

  2010cited by this paper
• Defective cAMP Generation Underlies the Sensitivity of CNS Neurons to Neurofibromatosis-1 Heterozygosity

  2010cited by this paper
• Clinical and genetic aspects of neurofibromatosis 1

  2010cited by this paper
• Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice.

  2010cited by this paper
• Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow.

  2008cited by this paper
• Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial.

  2008cited by this paper
• Neurofibromin regulation of ERK signaling modulates GABA release and learning.

  2008cited by this paper
• Classification and prediction of clinical Alzheimer's diagnosis based on plasma signaling proteins

  2007cited by this paper
• Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies

  2007cited by this paper
• An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

  2007cited by this paper
• The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1.

  2005cited by this paper
• The nature and frequency of cognitive deficits in children with neurofibromatosis type 1

  2005cited by this paper
• Transgenic expression of Cre recombinase from the tyrosine hydroxylase locus

  2004cited by this paper
• Elevated risk for MPNST in NF1 microdeletion patients.

  2003cited by this paper
• Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity.

  2003influential reference
• Astrocyte-Specific Inactivation of the Neurofibromatosis 1 Gene (NF1) Is Insufficient for Astrocytoma Formation

  2002influential reference
• Treatment of ADHD in neurofibromatosis type 1

  2002cited by this paper
• Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

  2002cited by this paper
• Activation of EGFP expression by Cre-mediated excision in a new ROSA26 reporter mouse strain.

  2001influential reference
• NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors.

  2001cited by this paper
• A mouse model for the learning and memory deficits associated with neurofibromatosis type I

  1997cited by this paper
• On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.

  1995cited by this paper
• An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

  1994cited by this paper
• Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.

  1994cited by this paper
• Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

  1992cited by this paper
• Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

  1988cited by this paper
• National Institutes of Health Consensus Development Conference Statement: Geriatric Assessment Methods for Clinical Decision‐making

  1988cited by this paper
• Effect of Simvastatin on Cognitive Functioning in Children with Neurofibromatosis Type 1 a Randomized Controlled Trial

  year unknowncited by this paper

• Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

  2026cites this paper
• Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1)

  2025cites this paper
• Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling

  2025cites this paper
• Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force

  2025cites this paper
• Ataluren‐Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations

  2025cites this paper
• An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies

  2024cites this paper
• Distinct attentional and executive profiles in neurofibromatosis type 1: Is there difference with primary attention deficit-hyperactivity disorder?

  2024cites this paper
• Global research trends in cutaneous neurofibromas: A bibliometric analysis from 2003 to 2022

  2024cites this paper
• Drosophila Contributions towards Understanding Neurofibromatosis 1

  2024cites this paper
• Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis

  2024cites this paper
• Social Communication in Ras Pathway Disorders: A Comprehensive Review from Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.

  2024cites this paper
• Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

  2024cites this paper
• The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1

  2024cites this paper
• The therapeutic potential of neurofibromin signaling pathways and binding partners

  2023cites this paper
• The efficacy of statins for improving cognitive impairments in pediatric patients with neurofibromatosis type 1 (NF-1): a meta-analysis

  2023cites this paper
• The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders - evidence from human neuronal cell models.

  2023cites this paper
• Neurofibromatosis Type 1-Associated Optic Pathway Gliomas: Current Challenges and Future Prospects

  2023cites this paper
• Neurofibromatosis type 1-associated optic pathway gliomas: pathogenesis and emerging treatments.

  2023cites this paper
• Ventral striatum dopamine release encodes unique properties of visual stimuli in mice

  2023influential citation
• Neurofibromin and suppression of tumorigenesis: beyond the GAP

  2022cites this paper
• Ventral striatal dopamine encodes unique properties of visual stimuli in mice

  2022cites this paper
• Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment

  2022cites this paper
• Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

  2022cites this paper
• LGG-50. Human induced pluripotent stem cell engineering establishes a humanized mouse platform for pediatric low-grade glioma modeling

  2022cites this paper
• Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1

  2022cites this paper
• RAS and beyond: the many faces of the neurofibromatosis type 1 protein

  2022cites this paper
• Human induced pluripotent stem cell modeling of neurofibromatosis type 1

  2022cites this paper
• Resolution of the Expert council on the problems of diagnosis and treatment of patients with plexiform neurofibromas

  2021cites this paper
• Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis

  2021cites this paper
• Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

  2021cites this paper
• Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment

  2021cites this paper
• Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C

  2021cites this paper
• Assessing Psychiatric Comorbidity and Pharmacologic Treatment Patterns Among Patients With Neurofibromatosis Type 1

  2021cites this paper
• Midkine activation of CD8+ T cells establishes a neuron–immune–cancer axis responsible for low-grade glioma growth

  2020cites this paper
• Mutation-Directed Therapeutics for Neurofibromatosis Type I

  2020cites this paper
• Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1

  2020cites this paper
• Neurofibromatosis Type 1: New Developments in Genetics and Treatment.

  2020cites this paper
• Neurofibromatosis tipo 1: relación genotipo-fenotipo

  2020cites this paper
• Neurofibromin Structure, Functions and Regulation

  2020cites this paper
• Modeling tumors of the peripheral nervous system associated with Neurofibromatosis type 1: Reprogramming plexiform neurofibroma cells.

  2020cites this paper
• A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma

  2020cites this paper
• Digital commons

  2020cites this paper
• Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

  2020cites this paper
• Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders

  2020cites this paper
• Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations

  2020cites this paper
• SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

  2020cites this paper
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  2019cites this paper
• NF1-cAMP signaling dissociates cell type–specific contributions of striatal medium spiny neurons to reward valuation and motor control

  2019cites this paper
• Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1

  2019cites this paper
• Brain tumors in neurofibromatosis type 1

  2019cites this paper
• Biochemical and structural analyses reveal that the tumor suppressor neurofibromin (NF1) forms a high-affinity dimer

  2019cites this paper
• Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1

  2019cites this paper
• Selective impairment of the executive attentional network in adult patients with neurofibromatosis type 1.

  2019cites this paper
• Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I

  2019cites this paper
• Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

  2019cites this paper
• Affinity Purification of NF1 Protein–Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners

  2019cites this paper
• Optical dopamine monitoring with dLight1 reveals mesolimbic phenotypes in a mouse model of neurofibromatosis type 1

  2019influential citation
• Constructing and Deconstructing Cancers using Human Pluripotent Stem Cells and Organoids.

  2019cites this paper
• Human stem cell modeling in neurofibromatosis type 1 (NF1).

  2018cites this paper
• Characterization of early communicative behavior in mouse models of neurofibromatosis type 1

  2018influential citation
• Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial

  2018cites this paper
• Neurofibromatosis type 1 and optic pathway glioma: Molecular interplay and therapeutic insights

  2018cites this paper
• Dietary intervention rescues myopathy associated with neurofibromatosis type 1

  2018cites this paper
• Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

  2018cites this paper
• A Conserved Circadian Function for the Neurofibromatosis 1 Gene

  2018cites this paper
• Optic Pathway Gliomas in Neurofibromatosis Type 1

  2018cites this paper
• Dopaminergic dysfunction in neurodevelopmental disorders: recent advances and synergistic technologies to aid basic research.

  2018cites this paper
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  2018cites this paper
• Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Structure and Behavior

  2017cites this paper
• Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success

  2017cites this paper
• Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1.

  2017cites this paper
• Updated nomenclature for human and mouse neurofibromatosis type 1 genes

  2017cites this paper
• Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways.

  2017cites this paper
• Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies

  2017cites this paper
• The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study.

  2017cites this paper
• Children with 5′-end NF1 gene mutations are more likely to have glioma

  2017cites this paper
• Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

  2016cites this paper
• COMT Val158Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1

  2016cites this paper
• NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

  2016cites this paper
• Contextual signaling in cancer.

  2016cites this paper
• Exploring the genetic basis for clinical variation in neurofibromatosis type 1

  2016cites this paper
• NF 1 germline mutation differentially dictates optic glioma formation and growth in neuro fi bromatosis-1

  2016cites this paper
• Challenges in Drug Discovery for Neurofibromatosis Type 1-Associated Low-Grade Glioma

  2016cites this paper
• Immortalization of human normal and NF1 neurofibroma Schwann cells

  2016cites this paper
• Pediatric gliomas as neurodevelopmental disorders

  2015cites this paper
• Neurofibromatosis type 1

  2008cites this paper
• Optic pathway gliomas in neurofibromatosis‐1: Controversies and recommendations

  2007cites this paper
• Global Medical Genetics

  year unknowncites this paper